Year: 2020
Type: Article
Title: Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes
Author: Fachal, Laura
Author: Aschard, Hugues
Author: Beesley, Jonathan
Author: Barnes, Daniel R
Author: Allen, Jamie
Author: Kar, Siddhartha
Author: Pooley, Karen A
Author: Dennis, Joe
Author: Michailidou, Kyriaki
Author: Turman, Constance
Author: Soucy, Penny
Author: Lemaçon, Audrey
Author: Lush, Michael
Author: Tyrer, Jonathan P
Author: Ghoussaini, Maya
Author: Moradi Marjaneh, Mahdi
Author: Jiang, Xia
Author: Agata, Simona
Author: Aittomäki, Kristiina
Author: Alonso, M Rosario
Author: Andrulis, Irene L
Author: Anton-Culver, Hoda
Author: Antonenkova, Natalia N
Author: Arason, Adalgeir
Author: Arndt, Volker
Author: Aronson, Kristan J
Author: Arun, Banu K
Author: Auber, Bernd
Author: Auer, Paul L
Author: Azzollini, Jacopo
Author: Balmaña, Judith
Author: Barkardottir, Rosa B
Author: Barrowdale, Daniel
Author: Beeghly-Fadiel, Alicia
Author: Benitez, Javier
Author: Bermisheva, Marina
Author: Białkowska, Katarzyna
Author: Blanco, Amie M
Author: Blomqvist, Carl
Author: Blot, William
Author: Bogdanova, Natalia V
Author: Bojesen, Stig E
Author: Bolla, Manjeet K
Author: Bonanni, Bernardo
Author: Borg, Ake
Author: Bosse, Kristin
Author: Brauch, Hiltrud
Author: Brenner, Hermann
Author: Briceno, Ignacio
Author: Brock, Ian W
Author: Brooks-Wilson, Angela
Author: Brüning, Thomas
Author: Burwinkel, Barbara
Author: Buys, Saundra S
Author: Cai, Qiuyin
Author: Caldés, Trinidad
Author: Caligo, Maria A
Author: Camp, Nicola J
Author: Campbell, Ian
Author: Canzian, Federico
Author: Carroll, Jason S
Author: Carter, Brian D
Author: Castelao, Jose E
Author: Chiquette, Jocelyne
Author: Christiansen, Hans
Author: Chung, Wendy K
Author: Claes, Kathleen B M
Author: Clarke, Christine L
Author: Collée, J Margriet
Author: Cornelissen, Sten
Author: Couch, Fergus J
Author: Cox, Angela
Author: Cross, Simon S
Author: Cybulski, Cezary
Author: Czene, Kamila
Author: Daly, Mary B
Author: de la Hoya, Miguel
Author: Devilee, Peter
Author: Diez, Orland
Author: Ding, Yuan Chun
Author: Dite, Gillian S
Author: Domchek, Susan M
Author: Dörk, Thilo
Author: Dos-Santos-Silva, Isabel
Author: Droit, Arnaud
Author: Dubois, Stéphane
Author: Dumont, Martine
Author: Duran, Mercedes
Author: Durcan, Lorraine
Author: Dwek, Miriam
Author: Eccles, Diana M
Author: Engel, Christoph
Author: Eriksson, Mikael
Author: Evans, D Gareth
Author: Fasching, Peter A
Author: Fletcher, Olivia
Author: Floris, Giuseppe
Author: Flyger, Henrik
Author: Foretova, Lenka
Author: Foulkes, William D
Author: Friedman, Eitan
Author: Fritschi, Lin
Author: Frost, Debra
Author: Gabrielson, Marike
Author: Gago-Dominguez, Manuela
Author: Gambino, Gaetana
Author: Ganz, Patricia A
Author: Gapstur, Susan M
Author: Garber, Judy
Author: García-Sáenz, José A
Author: Gaudet, Mia M
Author: Georgoulias, Vassilios
Author: Giles, Graham G
Author: Glendon, Gord
Author: Godwin, Andrew K
Author: Goldberg, Mark S
Author: Goldgar, David E
Author: González-Neira, Anna
Author: Tibiletti, Maria Grazia
Author: Greene, Mark H
Author: Grip, Mervi
Author: Gronwald, Jacek
Author: Grundy, Anne
Author: Guénel, Pascal
Author: Hahnen, Eric
Author: Haiman, Christopher A
Author: Håkansson, Niclas
Author: Hall, Per
Author: Hamann, Ute
Author: Harrington, Patricia A
Author: Hartikainen, Jaana M
Author: Hartman, Mikael
Author: He, Wei
Author: Healey, Catherine S
Author: Heemskerk-Gerritsen, Bernadette A M
Author: Heyworth, Jane
Author: Hillemanns, Peter
Author: Hogervorst, Frans B L
Author: Hollestelle, Antoinette
Author: Hooning, Maartje J
Author: Hopper, John L
Author: Howell, Anthony
Author: Huang, Guanmengqian
Author: Hulick, Peter J
Author: Imyanitov, Evgeny N
Author: Isaacs, Claudine
Author: Iwasaki, Motoki
Author: Jager, Agnes
Author: Jakimovska, Milena
Author: Jakubowska, Anna
Author: James, Paul A
Author: Janavicius, Ramunas
Author: Jankowitz, Rachel C
Author: John, Esther M
Author: Johnson, Nichola
Author: Jones, Michael E
Author: Jukkola-Vuorinen, Arja
Author: Jung, Audrey
Author: Kaaks, Rudolf
Author: Kang, Daehee
Author: Kapoor, Pooja Middha
Author: Karlan, Beth Y
Author: Keeman, Renske
Author: Kerin, Michael J
Author: Khusnutdinova, Elza
Author: Kiiski, Johanna I
Author: Kirk, Judy
Author: Kitahara, Cari M
Author: Ko, Yon-Dschun
Author: Konstantopoulou, Irene
Author: Kosma, Veli-Matti
Author: Koutros, Stella
Author: Kubelka-Sabit, Katerina
Author: Kwong, Ava
Author: Kyriacou, Kyriacos
Author: Laitman, Yael
Author: Lambrechts, Diether
Author: Lee, Eunjung
Author: Leslie, Goska
Author: Lester, Jenny
Author: Lesueur, Fabienne
Author: Lindblom, Annika
Author: Lo, Wing-Yee
Author: Long, Jirong
Author: Lophatananon, Artitaya
Author: Loud, Jennifer T
Author: Lubiński, Jan
Author: MacInnis, Robert J
Author: Maishman, Tom
Author: Makalic, Enes
Author: Mannermaa, Arto
Author: Manoochehri, Mehdi
Author: Manoukian, Siranoush
Author: Margolin, Sara
Author: Martinez, Maria Elena
Author: Matsuo, Keitaro
Author: Maurer, Tabea
Author: Mavroudis, Dimitrios
Author: Mayes, Rebecca
Author: McGuffog, Lesley
Author: McLean, Catriona
Author: Mebirouk, Noura
Author: Meindl, Alfons
Author: Miller, Austin
Author: Miller, Nicola
Author: Montagna, Marco
Author: Moreno, Fernando
Author: Muir, Kenneth
Author: Mulligan, Anna Marie
Author: Muñoz-Garzon, Victor M
Author: Muranen, Taru A
Author: Narod, Steven A
Author: Nassir, Rami
Author: Nathanson, Katherine L
Author: Neuhausen, Susan L
Author: Nevanlinna, Heli
Author: Neven, Patrick
Author: Nielsen, Finn C
Author: Nikitina-Zake, Liene
Author: Norman, Aaron
Author: Offit, Kenneth
Author: Olah, Edith
Author: Olopade, Olufunmilayo I
Author: Olsson, Håkan
Author: Orr, Nick
Author: Osorio, Ana
Author: Pankratz, V Shane
Author: Papp, Janos
Author: Park, Sue K
Author: Park-Simon, Tjoung-Won
Author: Parsons, Michael T
Author: Paul, James
Author: Pedersen, Inge Sokilde
Author: Peissel, Bernard
Author: Peshkin, Beth
Author: Peterlongo, Paolo
Author: Peto, Julian
Author: Plaseska-Karanfilska, Dijana
Author: Prajzendanc, Karolina
Author: Prentice, Ross
Author: Presneau, Nadege
Author: Prokofyeva, Darya
Author: Pujana, Miquel Angel
Author: Pylkäs, Katri
Author: Radice, Paolo
Author: Ramus, Susan J
Author: Rantala, Johanna
Author: Rau-Murthy, Rohini
Author: Rennert, Gad
Author: Risch, Harvey A
Author: Robson, Mark
Author: Romero, Atocha
Author: Rossing, Maria
Author: Saloustros, Emmanouil
Author: Sánchez-Herrero, Estela
Author: Sandler, Dale P
Author: Santamariña, Marta
Author: Saunders, Christobel
Author: Sawyer, Elinor J
Author: Scheuner, Maren T
Author: Schmidt, Daniel F
Author: Schmutzler, Rita K
Author: Schneeweiss, Andreas
Author: Schoemaker, Minouk J
Author: Schöttker, Ben
Author: Schürmann, Peter
Author: Scott, Christopher
Author: Scott, Rodney J
Author: Senter, Leigha
Author: Seynaeve, Caroline M
Author: Shah, Mitul
Author: Sharma, Priyanka
Author: Shen, Chen-Yang
Author: Shu, Xiao-Ou
Author: Singer, Christian F
Author: Slavin, Thomas P
Author: Smichkoska, Snezhana
Author: Southey, Melissa C
Author: Spinelli, John J
Author: Spurdle, Amanda B
Author: Stone, Jennifer
Author: Stoppa-Lyonnet, Dominique
Author: Sutter, Christian
Author: Swerdlow, Anthony J
Author: Tamimi, Rulla M
Author: Tan, Yen Yen
Author: Tapper, William J
Author: Taylor, Jack A
Author: Teixeira, Manuel R
Author: Tengström, Maria
Author: Teo, Soo Hwang
Author: Terry, Mary Beth
Author: Teulé, Alex
Author: Thomassen, Mads
Author: Thull, Darcy L
Author: Tischkowitz, Marc
Author: Toland, Amanda E
Author: Tollenaar, Rob A E M
Author: Tomlinson, Ian
Author: Torres, Diana
Author: Torres-Mejía, Gabriela
Author: Troester, Melissa A
Author: Truong, Thérèse
Author: Tung, Nadine
Author: Tzardi, Maria
Author: Ulmer, Hans-Ulrich
Author: Vachon, Celine M
Author: van Asperen, Christi J
Author: van der Kolk, Lizet E
Author: van Rensburg, Elizabeth J
Author: Vega, Ana
Author: Viel, Alessandra
Author: Vijai, Joseph
Author: Vogel, Maartje J
Author: Wang, Qin
Author: Wappenschmidt, Barbara
Author: Weinberg, Clarice R
Author: Weitzel, Jeffrey N
Author: Wendt, Camilla
Author: Wildiers, Hans
Author: Winqvist, Robert
Author: Wolk, Alicja
Author: Wu, Anna H
Author: Yannoukakos, Drakoulis
Author: Zhang, Yan
Author: Zheng, Wei
Author: Hunter, David
Author: Pharoah, Paul D P
Author: Chang-Claude, Jenny
Author: García-Closas, Montserrat
Author: Schmidt, Marjanka K
Author: Milne, Roger L
Author: Kristensen, Vessela N
Author: French, Juliet D
Author: Edwards, Stacey L
Author: Antoniou, Antonis C
Author: Chenevix-Trench, Georgia
Author: Simard, Jacques
Author: Easton, Douglas F
Author: Kraft, Peter
Author: Dunning, Alison M
Abstract: Genome-wide association studies have identified breast cancer risk variants in over 150 genomic regions, but the mechanisms underlying risk remain largely unknown. These regions were explored by combining association analysis with in silico genomic feature annotations. We defined 205 independent risk-associated signals with the set of credible causal variants in each one. In parallel, we used a Bayesian approach (PAINTOR) that combines genetic association, linkage disequilibrium and enriched genomic features to determine variants with high posterior probabilities of being causal. Potentially causal variants were significantly over-represented in active gene regulatory regions and transcription factor binding sites. We applied our INQUSIT pipeline for prioritizing genes as targets of those potentially causal variants, using gene expression (expression quantitative trait loci), chromatin interaction and functional annotations. Known cancer drivers, transcription factors and genes in the developmental, apoptosis, immune system and DNA integrity checkpoint gene ontology pathways were over-represented among the highest-confidence target genes.
Publisher: Springer Science and Business Media LLC
Relation: Nature Genetics
Identifier: oai:repository.ukim.mk:20.500.12188/7238
Identifier: http://hdl.handle.net/20.500.12188/7238Identifier: 10.1038/s41588-019-0537-1
Identifier: http://www.nature.com/articles/s41588-019-0537-1.pdfIdentifier: http://www.nature.com/articles/s41588-019-0537-1Identifier: http://www.nature.com/articles/s41588-019-0537-1.pdfIdentifier: 52
Identifier: 1
Identifier: 56
Identifier: 73
